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Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization

Author(s): Zakaria Zubaidah | Ahid Mohd Fadly Md | Ismail Azli | Keoh Ten Sew | Nor Nooraisyah Mohamad | Kamaluddin Nor Rizan | Esa Ezalia | Yuen Lam Kah | Rahman Eni Juraida Abdul | Osman Raudhawati

Journal: Molecular Cytogenetics
ISSN 1755-8166

Volume: 5;
Issue: 1;
Start page: 41;
Date: 2012;
Original page

Keywords: Array-based Comparative Genomic Hybridization | Acute lymphoblastic leukemia | ETV6/RUNX1

Abstract Background Acute lymphoblastic leukemia (ALL) is a heterogeneous form of hematological cancer consisting of various subtypes. We are interested to study the genetic aberration in precursor B-cell ALL with specific t(12;21) translocation in childhood ALL patients. A high resolution 244K array-based Comparative Genomic Hybridization (array-CGH) was used to study eleven ETV6/RUNX1-positive childhood acute lymphoblastic leukemia (ALL) patients. Result 155 chromosomal aberrations (119 losses, 36 gains) were reported in the array findings, corresponding to 76.8% deletions and 23.2% amplifications. The ETV6 gene deletion occurred in 4 of the patients, corresponding to 45% of the sample. The most common alterations above 1 Mb were deletion 6q (13%), 12p (12%) and 9p (8%), and duplication 4q (6%) and Xq (4%). Other genes important in ALL were also identified in this study including RUNX1, CDKN2A, FHIT, and PAX5. The array-CGH technique was able to detect microdeletion as small as 400 bp. Conclusion The results demonstrate the usefulness of high resolution array-CGH as a complementary tool in the investigation of ALL.
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